Disease computable phenotype is a data model designed to identify specific clinical conditions or characteristics, which automatically extracts information from clinical databases such as electronic health records through algorithms. Phenotypic data for rare diseases often reside in unstructured text. Due to the scarcity of rare disease cases, atypical symptoms, and insufficient physician experience, misdiagnosis and underdiagnosis rates remain high. In this context, the application of computable phenotype technology holds promise for improving the accuracy and efficiency of rare disease diagnosis. This article reviews the current research status, challenges, and opportunities of computable phenotype technology in biomedicine, particularly in the field of rare diseases, and proposes a development and validation framework for rare disease computable phenotypes, aiming to provide research and development insights for computable phenotypes to empower the diagnosis and treatment of rare diseases.

Objective: To evaluate the feasibility of dynamic contrast-enhanced MRI (DCE-MRI) in differentiating tumor deposits (TDs) from metastatic lymph nodes (MLNs) in rectal cancer. Materials and Methods: A retrospective analysis was conducted on 70 patients with rectal cancer, including 168 lesions (70 TDs and 98 MLNs confirmed by histopathology), who underwent pretreatment MRI and subsequent surgery between March 2019 and December 2022. The morphological characteristics of TDs and MLNs, along with quantitative parameters derived from DCE-MRI (K trans , kep, and v e) and DWI (ADCmin, ADCmax, and ADCmean), were analyzed and compared between the two groups.Multivariable binary logistic regression and receiver operating characteristic (ROC) curve analyses were performed to assess the diagnostic performance of significant individual quantitative parameters and combined parameters in distinguishing TDs from MLNs. Results: All morphological features, including size, shape, border, and signal intensity, as well as all DCE-MRI parameters showed significant differences between TDs and MLNs (all P < 0.05). However, ADC values did not demonstrate significant differences (all P > 0.05). Among the single quantitative parameters, v e had the highest diagnostic accuracy, with an area under the ROC curve (AUC) of 0.772 for distinguishing TDs from MLNs. A multivariable logistic regression model incorporating short axis, border, v e, and ADC mean improved diagnostic performance, achieving an AUC of 0.833 (P = 0.027). Conclusion The combination of morphological features, DCE-MRI parameters, and ADC values can effectively aid in the preoperative differentiation of TDs from MLNs in rectal cancer.

Objective: To evaluate the feasibility of dynamic contrast-enhanced MRI (DCE-MRI) in differentiating tumor deposits (TDs) from metastatic lymph nodes (MLNs) in rectal cancer. Materials and Methods: A retrospective analysis was conducted on 70 patients with rectal cancer, including 168 lesions (70 TDs and 98 MLNs confirmed by histopathology), who underwent pretreatment MRI and subsequent surgery between March 2019 and December 2022. The morphological characteristics of TDs and MLNs, along with quantitative parameters derived from DCE-MRI (K trans , kep, and v e) and DWI (ADCmin, ADCmax, and ADCmean), were analyzed and compared between the two groups.Multivariable binary logistic regression and receiver operating characteristic (ROC) curve analyses were performed to assess the diagnostic performance of significant individual quantitative parameters and combined parameters in distinguishing TDs from MLNs. Results: All morphological features, including size, shape, border, and signal intensity, as well as all DCE-MRI parameters showed significant differences between TDs and MLNs (all P < 0.05). However, ADC values did not demonstrate significant differences (all P > 0.05). Among the single quantitative parameters, v e had the highest diagnostic accuracy, with an area under the ROC curve (AUC) of 0.772 for distinguishing TDs from MLNs. A multivariable logistic regression model incorporating short axis, border, v e, and ADC mean improved diagnostic performance, achieving an AUC of 0.833 (P = 0.027). Conclusion The combination of morphological features, DCE-MRI parameters, and ADC values can effectively aid in the preoperative differentiation of TDs from MLNs in rectal cancer.

OBJECTIVE: To investigate the spatiotemporal patterns and socioeconomic factors influencing the incidence of tuberculosis (TB) in the Guangdong Province between 2010 and 2019. METHOD: Spatial and temporal variations in TB incidence were mapped using heat maps and hierarchical clustering. Socioenvironmental influencing factors were evaluated using a Bayesian spatiotemporal conditional autoregressive (ST-CAR) model. RESULTS: Annual incidence of TB in Guangdong decreased from 91.85/100,000 in 2010 to 53.06/100,000 in 2019. Spatial hotspots were found in northeastern Guangdong, particularly in Heyuan, Shanwei, and Shantou, while Shenzhen, Dongguan, and Foshan had the lowest rates in the Pearl River Delta. The ST-CAR model showed that the TB risk was lower with higher per capita Gross Domestic Product (GDP) [Relative Risk ( RR), 0.91; 95% Confidence Interval ( CI): 0.86-0.98], more the ratio of licensed physicians and physician ( RR, 0.94; 95% CI: 0.90-0.98), and higher per capita public expenditure ( RR, 0.94; 95% CI: 0.90-0.97), with a marginal effect of population density ( RR, 0.86; 95% CI: 0.86-1.00). CONCLUSION The incidence of TB in Guangdong varies spatially and temporally. Areas with poor economic conditions and insufficient healthcare resources are at an increased risk of TB infection. Strategies focusing on equitable health resource distribution and economic development are the key to TB control.
Humans ; China/epidemiology* ; Incidence ; Bayes Theorem ; Spatio-Temporal Analysis ; Tuberculosis/epidemiology* ; Socioeconomic Factors

Objective To preliminarily design a wide-energy-spectrum CR-39 solid-state nuclear track individual neutron dosimeter with different energy sections. Methods The thickness of the converter was optimized using the Monte Carlo SRIM program to broaden the energy range of the dosimeter. The self-made wide-energy-spectrum CR-39 individual neutron dosimeter was calibrated using ²⁴¹Am-Be, ²⁵²Cf, and thermal neutron sources to evaluate its dosimetric performance, including linearity, energy response, and neutron energy resolution. Results The linear correlation coefficient of the measurement system exceeded 0.98. The relative deviations of the energy response were 35.0% for blank section and 42.0% for polyethylene section, falling within the range of −50% to + 100% and meeting the monitoring requirements. The detection sensitivity for thermal neutron dose was 67 137.2 tr·cm⁻²·mSv⁻¹, and the detection sensitivity for thermal neutron fluence was 0.98 × 10⁻³ tr·n⁻¹, demonstrating good thermal neutron detection capability. Conclusion The self-made wide-energy-spectrum CR-39 individual neutron dosimeter fundamentally meets the requirements for individual neutron dose monitoring and is suitable for individual neutron dose monitoring in the energy range of thermal neutrons (up to approximately 15 MeV).

Objective:To investigate the impact of ginseng alcohol extract(GEE)on improving sleep quality in the aged Drosophila model by regulating the redox balance,and to elucidate its associated mechanism.Methods:Thirty-two male drosophila melanogaster(7-days-old)were randomly selected as young group,while 64 male Drosophila melanogaster flies(35-days-old)were randomly assigned to aged model group(n=32)and GEE group(n=32).The sleep parameters,including total sleep duration,daytime sleep duration,night sleep duration,0-4 h of sleep duration after lights off(ZT0-4 sleep duration),deep sleep duration,sleep episodetimes,sleep fragmentation,and the activity parameters such as the total number of locomotor activity daytime locomotor activity amount and nighttime locomotor activity amount were analyzed using the DAM2 Drosophila behavioral analysis system 7 d after administration.The grouping of the drosophila was as above,and there were 100 drosophila ineach group.The differentially expressed proteins in drosophila brain tissue were screened,identified,and functionally analyzed using two-dimensional fluorescence difference gel electrophoresis(2D-DIGE)and matrix-assisted laser desorption/ionization time of flight mass spectrometry(MALDI-TOF/TOF-MS)proteomic methods.The grouping of the drosophila was as above,and there were 100 drosophila in each group.The activities of superoxide dismutase(SOD),catalase(CAT),and glutathione peroxidase(GSH-Px)and the levels of lipid peroxidation product(MDA)in brain tissue of the drosophila were determined using assay kits.Results:Compared with young group,the total sleep duration daytime sleep duration and night sleep cluration of the drosophila in agaed group were decreased(P<0.05 or P<0.01);and the sleep rhythm amplitude was shortened.Compared with aged group,the total sleep duration and daytime and nighttime sleep durations of the drosphila in GEE group were lengthened(P<0.01).Compared with young group,the ZT0-4 sleep duration deep sleep duration and sleep fragment of the drosophila in aged group were decreased(P<0.05 or P<0.01),and the sleep rhythm amplitude was shortened.Compared with young group,the ZT0-4 sleep duration,deep sleep duration,and single sleep fragment of the drosphila in GEE group were significantly prolonged(P<0.01),and the sleep amplitude was increased.Compared with young group,there was no significant difference in diurnal spontaneous activity or total spontaneous activity of the drosophila in aged group(P>0.05),while the nocturnal spontaneous activity was significantly increased(P<0.05).Compared with aged group,the diurnal spontaneous activity,nocturnal spontaneous activity,and total spontaneous activity of the drosophila in GEE group were significantly decreased(P<0.05 or P<0.01).A total of 47 differentially expressed proteins were selected in the 2D-DIGE electrophoretic mapping.Compared with young group,the expressions of 47 differentially expressed protein sites in aged group were down-regulated mainly including glutathione S-transferase,peroxiredoxin 1 and dihydrolipoic dehydrogenase,which were related to redox balance.Compared with young group,the activities of SOD,CAT and GSH-Px in brain tissue of the drosophila in aged group were decreased(P<0.05 or P<0.01),and the level of MDA was increased(P<0.01);compared with aged group,the activities of SOD,CAT and GSH-Px in brain tissue of the drosphila in GEE group were increased(P<0.05 or P<0.01),and the MDA level was decreased(P<0.05).Conclusion:GEE has improvement effect on the sleep quality of aged drosophila,and its possible mechanism may be related to upregulating the activities of antioxidant enzymes,inhibiting the accumulation of lipid peroxidation products,and maintaining redox balance.

BACKGROUND:During the treatment of posterolateral tibial plateau fractures through the fibular head approach,the gap between the fibular head and the lateral plateau cannot accommodate the posterior placement of a plate for all patients.OBJECTIVE:To analyze,via finite element analysis,the differences in fixation strength resulting from varying the angles and quantities of horizontal arm variable angle screws in the plate during the treatment of posterolateral tibial plateau fractures through the fibular head approach.METHODS:A finite element model was established based on CT images of the knee to ankle joints of a 30-year-old healthy adult male volunteer.The models were divided into two categories:posteriorly placed group and non-posteriorly placed group based on whether the lateral locking compression plate was posteriorly placed.The posteriorly placed group was further subdivided into groups A-D based on the offset angle of the two variable angle screws(0°,5°,10°,and 15°).The non-posteriorly placed group was subdivided into groups E and F based on offset angles(0° and 15°).Finite element analysis was used to evaluate the von Mises stress distribution,maximum von Mises stress,and compressive displacement under loads of 250,500,and 750 N,exploring the mechanical differences between the groups.RESULTS AND CONCLUSION:(1)Finite element analysis results showed that under a 750 N load,the maximum compressive displacement trend of the internal fixation device was D＜B=C=F＜A＜E.The trend for maximum von Mises stress was B＜C＜A＜D＜F＜E.The trend for maximum compressive displacement on the bone was C=D＜B＜A＜F＜E,and for maximum von Mises stress,it was B＜C＜A＜F＜D＜E.The displacement and stress trends for the six models were similar under loads ranging from 250 N to 750 N.(2)These results suggest that for posterolateral tibial plateau fractures fixed through the fibular head approach,posterior placement of the plate should aim to accommodate two screws.If only one screw can be fixed during surgery,variable angle screws should be offset in the range of 0-15° to increase the probability of securing two screws.

Aim To evaluate the role of the glucose transporter protein 1(GLUT1)-dependent glycolytic in the attenuation of oxygen-glucose deprivation-reoxygen-ation(OGD/R)injury in HK-2 cells by dexmedetomi-dine(Dex).Methods C57/BL6 mice were random-ly divided into three groups(n=6),namely,sham operation group(Sham group),renal ischemia reper-fusion group(I/R group)and Dex group(I/R+Dex group).Serum creatinine(Cr)and urea nitrogen(BUN)were measured,while the levels of key glyco-lytic enzymes HK2,PFKFB3 and GLUT1 were meas-ured.HK-2 cells were cultured and randomised into seven groups(n=6),which was treated with OGD/R,overexpression or interference with GLUT1,Dex and glycolysis inhibitor 2-DG.CCK-8 and LDH activi-ty were used to detect cellular damage.Glycolysis lev-els were detected by lactate and ECAR.The inflamma-tory level was reflected by qRT-PCR for IL-6 and TNF-α.qRT-PCR and Western blot were performed to de-tect the levels of GLUT1,HK2,and PFKFB3.Results Dex significantly ameliorated kidney injury and HK-2 cell injury(P＜0.05).Dex inhibited the OGD/R-induced rise in lactate and extracellular acidification rate(ECAR),as evidenced by suppression of the ex-pression of GLUT1,HK2 and PFKFB3(P＜0.05).In vitro experiments showed that GLUT1 knockdown sig-nificantly improved OGD/R-induced cellular damage.Lactate,ECAR,glycolysis-related mRNAs and pro-teins were inhibited by GLUT1 knockdown(P＜0.05).Significantly,there were no significant differ-ences in above indexes after Dex treatment based on GLUT1 knockdown.Overexpression of GLUT1 abroga-ted the protective effects of Dex,while reversing the inhibitory effects of Dex on the expression of GLUT1,HK2,and PFKFB3(P＜0.05).Conclusions Dexmedetomidine attenuates OGD/R induced injury in HK-2 cells by inhibiting GLUT1-dependent glycolysis.

Objective To observe the clinical efficacy and safety of dexmedetomidine injection combined with esketamine injection in the treatment of patients with oral squamous cell carcinoma radical resection.Methods Patients with oral squamous cell carcinoma radical resection were randomly divided into treatment and control groups.The treatment group will receive intravenous administration of 0.6 μg·kg-1 dexmedetomidine 10 minutes before anesthesia induction.Subsequently,anesthesia induction will be performed with intravenous administration of 0.5 mg·kg-1 esketamine.Anesthesia maintenance will be achieved with intravenous infusion of 0.25 mg·kg-1·h-1 esketamine and 0.3 μg·kg-1·h-1 dexmedetomidine used an infusion pump.The control group will receive intravenous administration of an equivalent volume of 0.9％NaCl 10 minutes before anesthesia induction.Anesthesia induction will then be performed with intravenous administration of 2.5-5.0 μg·kg-1 fentanyl.Anesthesia maintenance will involve intravenous infusion of 0.10-0.25 μg·kg-1·min-1 remifentanil used an infusion pump.The anesthesia effectiveness,analgesic effectiveness,hemodynamics and safety were compared between the two groups.Results Treatment group were enrolled 62 cases,1 case dropped out,and 61 cases were finally included in the statistical analysis.Control group were enrolled 61 cases,1 case dropped out,and 60 cases were finally included in the statistical analysis.The recovery room stay time of treatment and control groups was(25.97±4.52)and(18.39±3.64)min,the extubation time was(16.75±4.84)and(10.16±3.18)min,and the differences were statistically significant(all P＜0.05).After operation 24 h,visual analogue scores of treatment and control groups were(0.85±0.17)and(1.39±0.25)points,adrenocorticotropin levels were(60.07±7.13)and(72.64±9.81)pg·mL-1,cortisol levels were(481.20±49.15)and(539.94±57.77)nmol·L-1,and the differences were statistically significant(all P＜0.05).The mean arterial pressure at 30 min after anesthesia induction(T1)and at the end of surgery(T2)in treatment group were(82.34±4.98)and(86.57±4.18)mmHg,while those in control group were(77.25±7.16)and(76.02±6.29)mmHg;the heart rates of T1 and T2 in treatment groups were(64.08±4.19)and(66.45±4.83)time·min-1,while those in control group were(68.44±6.02)and(72.08±7.27)time·min-1;and the differences were statistically significant(all P＜0.05).The adverse drug reactions in two groups were nausea,vomiting,bradycardia and dizziness.The total incidences of adverse drug reactions in treatment and control groups were 8.20％and 15.00％,without significant difference(P＞0.05).Conclusion Dexmedetomidine injection combined with esketamine injection has a definitive analgesia efficacy in the treatment of patients with oral squamous cell carcinoma radical resection,which can significantly reduce stress responses,maintain hemodynamic stability,without increasing the incidence of adverse drug reactions.

Ultrasound-mediated sonodynamic therapy,chemodynamic therapy,immunotherapy and gene editing synergize the precise control of ultrasound with targeted properties of nanomaterials,hence promising for overcome the limitations of traditional cancer treatments.The advancements in ultrasound-mediated nanotherapy of tumors were reviewed in this article.